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Aliases & Descriptions for JUP
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases ARVD12 2 , 5 CTNNG 2 , 3 DP3 1 , 2 , 3 , 5 DPIII 1 , 2 Desmoplakin-3 3 OTTHUMP00000164735 2 PDGB 1 , 2 , 5 PKGB 1 , 2 gamma-catenin 2
Descriptions Catenin gamma 3 Desmoplakin III 3 catenin (cadherin-associated protein), gamma (80kD) 2 catenin (cadherin-associated protein), gamma 80kDa 1 , 2 junction plakoglobin 2
Search outside databases for aliases for JUP genePrevious GC identifers: GC17M039465 GC17M041960 GC17M039820 GC17M040284
Summaries for JUP (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for JUP : This gene encodes a major cytoplasmic protein which is the only known constituent common tosubmembranous plaques of both desmosomes and intermediate junctions. This protein forms distinctcomplexes with cadherins and desmosomal cadherins and is a member of the catenin family since itcontains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this genehas been associated with Naxos disease. Alternative splicing occurs in this gene; however, not alltranscripts have been fully described. [provided by RefSeq] UniProtKB/Swiss-Prot: PLAK_HUMAN, P14923 Function : Common junctional plaque protein. The membrane-associated plaques are architecturalelements in an important strategic position to influence the arrangement and function of both thecytoskeleton and the cells within the tissue. The presence of plakoglobin in both the desmosomesand in the intermediate junctions suggests that it plays a central role in the structure andfunction of submembranous plaques
Gene Wiki entry for JUP
Genomic Location for JUP
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the JUP gene Entrez Gene cytogenetic band: 17q21 Ensembl cytogenetic band: 17q21.2 HGNC cytogenetic band: 17q21 JUP Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 17 GeneLoc Exon Structure
GeneLoc location for GC17M037164:
(about GC identifiers )
Start:
37,164,382 bp from pter
End:
37,196,476 bp from pter
Size:
32,095 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000017.9 NT_010755.15 Proteins for JUP
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: PLAK_HUMAN, P14923 (See
protein sequence )Recommended Name: Junction plakoglobin Size : 745 amino acids; 81745 Da
Subunit : Homodimer. Interacts with MUC1
Subcellular location : Cell junction, adherens junction. Cell junction, desmosome. Cytoplasm,cytoskeleton. Membrane; Peripheral membrane protein. Note=Cytoplasmic in a soluble andmembrane-associated form
Sequence caution : Sequence=AAH00441.2; Type=Erroneous initiation; Note=Translation N-terminallyshortened;
Secondary accessions : Q15093 Q15151 Q7L3S5 Q86W21 Q9BWC4 Q9HCX9
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_002221.1 NP_068831.1 ENSEMBL proteins: ENSP00000377508 ENSP00000377507 ENSP00000311113 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: JUP 5/10 Gene Ontology (GO) cellular component terms (links to tree view) (see all 10
):
About this table Antibodies for JUP: Assays for JUP:
Protein
Domains/ Families for JUP(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P14923 ProtoNet protein and cluster: P14923
2 Blocks protein families : IPB000225 Armadillo repeat IPB000357 HEAT repeat UniProtKB/Swiss-Prot: PLAK_HUMAN, P14923 Similarity : Belongs to the beta-catenin familySimilarity : Contains 9 ARM repeats
Gene Function for JUP
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_002230 Applied Biosystems Silencer ® siRNAs for JUP Sigma-Aldrich siRNA and siRNA Panels for JUP Sigma-Aldrich shRNA Panels and shRNA for JUP Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_002230                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_002230                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_002230  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_021991 UniProtKB/Swiss-Prot: PLAK_HUMAN, P14923 Function : Common junctional plaque protein. The membrane-associated plaques are architecturalelements in an important strategic position to influence the arrangement and function of both thecytoskeleton and the cells within the tissue. The presence of plakoglobin in both the desmosomesand in the intermediate junctions suggests that it plays a central role in the structure andfunction of submembranous plaques
8 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Jup) :2 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for JUP
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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2 Sigma-Aldrich "Your Favorite Gene" Pathways for JUP (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for JUP 5/69 Interacting proteins for JUP (ENSP00000311113 3 P14923 1 , 2 ) via UniProtKB, MINT, and/or STRING (see all 69
)About this table 1 Gene Ontology (GO) biological process term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0016337 cell-cell adhesion
IEA --
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Drugs & Compounds for JUP (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for JUP 8 Novoseek chemical compound relationships for JUP gene
About this table 1 PharmGKB drug compound relationship for JUP gene
Drug compound
PharmGKB Relations
PubMed IDs for articles supporting these relationships
antiarrhythmics FA  GN  12373648
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Transcripts for JUP(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
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siRNAs from Applied Biosystems ,
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shRNA from
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_002230 Sigma-Aldrich siRNA and siRNA Panels for JUP Sigma-Aldrich shRNA Panels and shRNA for JUP Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_002230 NM_021991
REFSEQ mRNAs for JUP gene (2 alternative transcripts): NM_002230.2 NM_021991.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_002230 NM_021991
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_002230                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_002230                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_002230  
Additional cDNA sequence: AK226051.1 AY243535.1 BC000441.2 CR608656.1 CR612481.1 M23410.1 Z68228.1
19 DOTS entries : DT.316762 DT.95310616 DT.92451789 DT.95353325 DT.95148127 DT.95222134 DT.97862399 DT.100797760 DT.100797771 DT.95329446 DT.100797766 DT.87014380 DT.92451794 DT.95142885 DT.100797763 DT.120971183 DT.40133252 DT.92451791 DT.99945191
24/610 AceView cDNA sequences (see all 610
):BM713364 BQ268292 BQ687452 BM757209 CA489074 AW006928 AW298122 BU190718 BQ690879 AA932199 BQ686131 BM672741 BX090907 BF917930 AA777981 BM788177 BE886836 BE857137 BM849198 BQ689724 BM742941 BQ268357 AI763184 BM845779
highest scoring ESTs for JUP :M23410 AL549599 AW248439 BC000441 BE018649 BE732335 BF313510 BI091479 BI524026 BM547783
Unigene Cluster for JUP: Junction plakoglobin Hs.514174 [show with all ESTs ] Unigene Representative Sequence: NM_002230 GeneLoc Exon Structure 5/13 Alternative Splicing Database (ASD) splice patterns (SP) for JUP (see all 13
) ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ SP1 :           -   -   -   -   -   -   -     -                           SP2 :   -   -   -   -   -   -   -   -   -   -   -     -                           SP3 :                                                     SP4 :           -   -   -   -   -   -   -     -         -   -   -   -   -           SP5 :                           -                          
ExUns: 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 SP1 :       -             SP2 :                   SP3 :                   SP4 :                   SP5 :                  
About this scheme ECgene alternative splicing isoforms for JUP 3 Ensembl transcripts including schematic representations : ENST00000393931
ENST00000393930
ENST00000310706
Expression for JUP
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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JUP expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for JUP 1 / 2 / 3
3 probe-sets matching JUP gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GTGTGGGGGGSOURCE GeneReport for Unigene cluster: Hs.514174 Expression variation in blood from EXPOLDB for JUP
Orthologs for JUP
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for JUP gene from 5/10 species (see all 10
)
About this table Species with no ortholog for JUP ENSEMBL Gene Tree for JUP Paralogs for JUP (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for JUP gene CTNNB1 2
SNPs/Variants for JUP (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for JUP (up to first 250kb)
Disorders & Mutations for JUP
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 173325 disorders : 601214 611528 UniProtKB/Swiss-Prot: PLAK_HUMAN, P14923
Defects in JUP are the cause of Naxos disease (NXD) [MIM:601214]. NXD is an autosomalrecessive disorder combining diffuse non-epidermolytic palmoplantar keratoderma witharrhythmogenic right ventricular dysplasia/cardiomyopathy and woolly hair Defects in JUP are the cause of familial arrhythmogenic right ventricular dysplasia type12 (ARVD12) [MIM:611528]; also called arrhythmogenic right ventricular cardiomyopathy type 12(ARVC12). ARVD is an autosomal dominant disease characterized by partial degeneration of themyocardium of the right ventricle, electrical instability, and sudden death. It is clinicallydefined by electrocardiographic and angiographic criteria; pathologic findings, replacement ofventricular myocardium with fatty and fibrous elements, preferentially involve the rightventricular free wall
10/94 Novoseek disease relationships for JUP gene (see all 94
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
naxos disease
89.21
14
15851108 (3), 10902626 (2), 11691526 (2), 16096717 (1) (see all 10 )
arrhythmogenic right ventricular dysplasia
81.13
14
16893920 (2), 10902626 (1), 17413274 (1), 17924338 (1) (see all 11 )
pemphigus vulgaris
76.05
12
9521500 (3), 12358812 (3), 11125324 (1), 7738346 (1) (see all 8 )
acantholysis
75.94
5
11553312 (2), 11125324 (1), 12358812 (1), 11334462 (1)
keratoderma palmoplantar
73.63
8
10902626 (2), 17045679 (2), 18957847 (1), 16414451 (1) (see all 6 )
hailey-hailey disease
63.22
4
9521500 (3), 1419753 (1)
pemphigus
63.12
4
10427986 (1), 1419753 (1), 11251577 (1)
familial adenomatous polyposis
61.21
7
10408833 (1), 10207085 (1), 11407474 (1), 10996845 (1) (see all 7 )
darier disease
60.19
5
9521500 (3), 7537767 (1), 1419753 (1)
metastasis
53.67
41
12658921 (3), 9552044 (2), 15484291 (2), 16288849 (2) (see all 28 )
About this table 2 PharmGKB disease relationships for JUP gene About this table GeneTests: JUP Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Human Gene Mutation Database : JUP
Medical News for JUP (Possibly Related Articles in
Doctor's Guide )
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--
Publications for JUP (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/557 PubMed articles for JUP gene (see all 557
): A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. (PubMed id 17924338) 1, 3, 4 Asimaki A....McKenna W.J. (2007) Chromosomal assignment of the human genes coding for the major proteins of the desmosome junction, desmoglein DGI (DSG), desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and plakoglobin DPIII (JUP). (PubMed id 1889810) 1, 2, 3 Arnemann J....Buxton R.S. (1991) Genomic organization and amplification of the human plakoglobin gene (JUP). (PubMed id 11016852) 1, 3, 4 Whittock N.V.... McGrath J.A. (2000) Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). (PubMed id 10902626) 1, 3, 4 McKoy G....McKenna W.J. (2000) The human plakoglobin gene localizes on chromosome 17q21 and is subjected to loss of heterozygosity in breast and ovarian cancers. (PubMed id 7604000) 1, 2, 3 Aberle H....Lynch H.T. (1995) Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983) 3, 4 Olsen J.V....Mann M. (2006) Time-resolved mass spectrometry of tyrosine phosphorylation sites in the epidermal growth factor receptor signaling network reveals dynamic modules. (PubMed id 15951569) 3, 4 Zhang Y.... White F.M. (2005) Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. (PubMed id 12373648) 1, 7 Rampazzo A....Danieli G.A. (2002) Interaction of the DF3/MUC1 breast carcinoma-associated antigen and beta-catenin in cell adhesion. (PubMed id 9139698) 3, 4 Yamamoto M....Kufe D. (1997) Molecular cloning and amino acid sequence of human plakoglobin, the common junctional plaque protein. (PubMed id 2726765) 3, 4 Franke W.W.... Cowin P. (1989)
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Genome Databases showing JUP
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing JUP
(According to HUGE )
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Specialized Databases showing JUP (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for JUP (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for JUP:
Antibodies & Assays for JUP   (_-Catenin)
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009